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10.1186/s13023-017-0654-9 http://scihub22266oqcxt.onion/10.1186/s13023-017-0654-9 C5445308!5445308 !28545593     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28545593 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Orphanet+J+Rare+Dis 2017 ; 12 (1 ): 101 Nephropedia Template TP {{tp|p=28545593 |t=2017. PIGO deficiency: palmoplantar keratoderma and novel mutations |pdf=|usr=}}{{28545593 }} gab.com Text PIGO deficiency: palmoplantar keratoderma and novel mutations JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28545593 #FOAvip BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. METHODS: Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. RESULTS: Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy's father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. CONCLUSION: A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed. Twit Text FOAVip PIGO deficiency: palmoplantar keratoderma and novel mutations ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28545593 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28545593 #FOAvip English Wikipedia <ref>{{Cite pmid|28545593 }}</ref> PIGO deficiency: palmoplantar keratoderma and novel mutations #MMPMID28545593 Morren MA ; Jaeken J ; Visser G ; Salles I ; Van Geet C ; Simeoni I ; Turro E ; Freson K Orphanet J Rare Dis 2017[May]; 12 (1 ): 101 PMID28545593 show ga BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation (CDG). Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterised by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. METHODS: Whole exome sequencing was performed in a boy with dysmorphism, psychomotor disability, epilepsy, palmoplantar keratoderma, hyperphosphatasemia and platelet dysfunction without a clinical bleeding phenotype. RESULTS: Two novel variants in PIGO were detected. The missense variant encoding p. His871Pro was inherited from the boy's father while the frameshift variant encoding p. Arg604ProfsTer40 was maternally inherited. CONCLUSION: A boy with two novel PIGO variants is reported. The skin phenotype and platelet dysfunction in this patient have not been described in previously reported patients with PIGO deficiency but it is of course uncertain whether these are caused by this disorder. The literature on PIGO deficiency is reviewed. |Adolescent [MESH] |Glycosylphosphatidylinositols/deficiency/genetics [MESH] |Humans [MESH] |Keratoderma, Palmoplantar/*diagnosis/*genetics/metabolism [MESH] |Male [MESH] |Membrane Proteins/*deficiency/*genetics [MESH]PIGO deficiency: palmoplantar keratoderma and novel mutations (epmc).pdf DeepDyve Pubget Overpricing